Heerfordt syndrome

Overview

Heerfordt syndrome, also known as uveoparotid fever, is a rare subacute presentation of sarcoidosis, a multisystem inflammatory disease characterized by noncaseating granulomas. The syndrome typically involves inflammation of the parotid glands, uveitis, low-grade fever, and facial nerve palsy. It was first described by Danish ophthalmologist Christian Heerfordt in 1909. Though uncommon, Heerfordt syndrome is an important clinical variant of sarcoidosis and can aid in its early recognition, especially when the typical features present together.

Causes

Heerfordt syndrome is caused by sarcoidosis, but the exact underlying trigger for sarcoidosis itself remains unknown. Sarcoidosis is believed to result from an exaggerated immune response to environmental, infectious, or genetic factors. In Heerfordt syndrome, the immune system forms granulomas — clusters of inflammatory cells — in the salivary glands, eyes, facial nerve, and other organs. Genetic predisposition may play a role, with higher prevalence in certain ethnic populations.

Symptoms

Heerfordt syndrome presents with a characteristic set of symptoms, often referred to as a clinical tetrad:

• Parotitis: Painless or painful swelling of one or both parotid glands

• Uveitis: Inflammation of the uveal tract in the eye, which can cause redness, blurred vision, eye pain, and sensitivity to light

• Facial nerve palsy: Weakness or paralysis of facial muscles, usually affecting one side (unilateral)

• Fever: Low-grade, persistent fever

Other nonspecific symptoms such as fatigue, dry mouth, or generalized lymphadenopathy may also occur. Not all patients present with all four features simultaneously.

Diagnosis

Diagnosis of Heerfordt syndrome is based on clinical suspicion, supported by imaging, laboratory tests, and histological confirmation of sarcoidosis. Key diagnostic steps include:

• Clinical evaluation: Recognition of the classic tetrad of symptoms

• Imaging: Chest X-ray or CT scan to detect hilar lymphadenopathy, commonly seen in sarcoidosis

• Biopsy: Histologic confirmation of noncaseating granulomas in affected tissues (e.g., parotid gland, lymph node, or skin)

• Ophthalmologic examination: To assess the type and extent of uveitis

• Blood tests: Elevated serum angiotensin-converting enzyme (ACE) levels, hypercalcemia, or abnormal liver function tests

Exclusion of infections, malignancies, and other autoimmune diseases is essential before confirming the diagnosis.

Treatment

Treatment of Heerfordt syndrome aims to control inflammation and manage symptoms. Therapeutic options include:

• Corticosteroids: First-line treatment to reduce granulomatous inflammation (oral prednisone is commonly used)

• Topical or periocular steroids: For localized uveitis treatment

• Immunosuppressive agents: Methotrexate or azathioprine may be used in steroid-resistant or recurrent cases

• Artificial tears or lubricants: For eye discomfort and dryness

• Supportive care: Physical therapy for facial nerve palsy or analgesics for glandular pain

Regular monitoring by ophthalmologists and specialists in sarcoidosis is necessary for managing complications and tapering medications appropriately.

Prognosis

The prognosis of Heerfordt syndrome is generally favorable, especially with early diagnosis and appropriate treatment. Most patients respond well to corticosteroids, and facial nerve function often recovers over time. However, complications such as chronic uveitis, vision problems, or persistent sarcoidosis in other organs may occur in some cases. Long-term follow-up is essential to monitor for recurrence and manage any systemic involvement of sarcoidosis.